Term Name: | Charcot-Marie-Tooth disease type 2A2B |
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Synonyms: | AR-CMT2, Ouvrier type, autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type, Charcot-Marie-Tooth disease, axonal, type 2A2B, CMT2A2B, SEOAN due to MFN2 deficiency, severe early-onset axonal neuropathy due to MFN2 deficiency |
Definition: | A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. |
Ontology: | Human Disease [DOID:0111557] ( DOID:0111557 ) |